Human Gene GRIN2C (ENST00000293190.10_7) from GENCODE V47lift37
  Description: glutamate ionotropic receptor NMDA type subunit 2C, transcript variant 3 (from RefSeq NR_103735.2)
Gencode Transcript: ENST00000293190.10_7
Gencode Gene: ENSG00000161509.14_9
Transcript (Including UTRs)
   Position: hg19 chr17:72,838,162-72,856,008 Size: 17,847 Total Exon Count: 13 Strand: -
Coding Region
   Position: hg19 chr17:72,838,574-72,851,231 Size: 12,658 Coding Exon Count: 12 

Page IndexSequence and LinksUniProtKB CommentsPrimersMalaCardsCTD
Gene AllelesRNA-Seq ExpressionMicroarray ExpressionRNA StructureProtein StructureOther Species
GO AnnotationsmRNA DescriptionsPathwaysOther NamesModel InformationMethods
Data last updated at UCSC: 2024-08-22 23:36:26

-  Sequence and Links to Tools and Databases
 
Genomic Sequence (chr17:72,838,162-72,856,008)mRNA (may differ from genome)Protein (1233 aa)
Gene SorterGenome BrowserOther Species FASTAVisiGeneGene interactionsTable Schema
AlphaFoldBioGPSEnsemblEntrez GeneExonPrimerGeneCards
HGNCHuman Cortex Gene ExpressionMalacardsMGIOMIMPubMed
ReactomeUniProtKBWikipediaBioGrid CRISPR DB

-  Comments and Description Text from UniProtKB
  ID: NMDE3_HUMAN
DESCRIPTION: RecName: Full=Glutamate [NMDA] receptor subunit epsilon-3; AltName: Full=N-methyl D-aspartate receptor subtype 2C; Short=NMDAR2C; Short=NR2C; Flags: Precursor;
FUNCTION: NMDA receptor subtype of glutamate-gated ion channels with high calcium permeability and voltage-dependent sensitivity to magnesium. Mediated by glycine.
SUBUNIT: Interacts with PDZ domains of INADL and DLG4 (By similarity). Forms heteromeric channel of a zeta subunit (GRIN1), a epsilon subunit (GRIN2A, GRIN2B, GRIN2C or GRIN2D) and a third subunit (GRIN3A or GRIN3B).
SUBCELLULAR LOCATION: Cell membrane; Multi-pass membrane protein. Cell junction, synapse, postsynaptic cell membrane; Multi-pass membrane protein.
TISSUE SPECIFICITY: Mainly expressed in brain with predominant expression is in the cerebellum, also present in the hippocampus, amygdala, caudate nucleus, corpus callosum, subthalamic nuclei and thalamus. Detected in the heart, skeletal muscle and pancreas.
SIMILARITY: Belongs to the glutamate-gated ion channel (TC 1.A.10.1) family. NR2C/GRIN2C subfamily.

-  Primer design for this transcript
 

Primer3Plus can design qPCR Primers that straddle exon-exon-junctions, which amplify only cDNA, not genomic DNA.
Click here to load the transcript sequence and exon structure into Primer3Plus

Exonprimer can design one pair of Sanger sequencing primers around every exon, located in non-genic sequence.
Click here to open Exonprimer with this transcript

To design primers for a non-coding sequence, zoom to a region of interest and select from the drop-down menu: View > In External Tools > Primer3


-  MalaCards Disease Associations
  MalaCards Gene Search: GRIN2C
Diseases sorted by gene-association score: alzheimer disease (4), schizophrenia (3), autosomal dominant nonsyndromic deafness 20 (1)

-  Comparative Toxicogenomics Database (CTD)
  The following chemicals interact with this gene

+  Common Gene Haplotype Alleles
  Press "+" in the title bar above to open this section.

-  RNA-Seq Expression Data from GTEx (53 Tissues, 570 Donors)
  Highest median expression: 106.04 RPKM in Brain - Cerebellum
Total median expression: 338.94 RPKM



View in GTEx track of Genome Browser    View at GTEx portal     View GTEx Body Map

+  Microarray Expression Data
  Press "+" in the title bar above to open this section.

-  mRNA Secondary Structure of 3' and 5' UTRs
 
RegionFold EnergyBasesEnergy/Base
Display As
5' UTR -54.20157-0.345 Picture PostScript Text
3' UTR -166.00412-0.403 Picture PostScript Text

The RNAfold program from the Vienna RNA Package is used to perform the secondary structure predictions and folding calculations. The estimated folding energy is in kcal/mol. The more negative the energy, the more secondary structure the RNA is likely to have.

-  Protein Domain and Structure Information
  InterPro Domains: Graphical view of domain structure
IPR001828 - ANF_lig-bd_rcpt
IPR019594 - Glu_rcpt_Glu/Gly-bd
IPR001320 - Iontro_glu_rcpt
IPR001508 - NMDA_rcpt
IPR018884 - NMDAR2_C
IPR001638 - SBP_bac_3

Pfam Domains:
PF00060 - Ligand-gated ion channel
PF00497 - Bacterial extracellular solute-binding proteins, family 3
PF01094 - Receptor family ligand binding region
PF10565 - N-methyl D-aspartate receptor 2B3 C-terminus
PF10613 - Ligated ion channel L-glutamate- and glycine-binding site

SCOP Domains:
53822 - Periplasmic binding protein-like I
53850 - Periplasmic binding protein-like II

ModBase Predicted Comparative 3D Structure on Q14957
FrontTopSide
The pictures above may be empty if there is no ModBase structure for the protein. The ModBase structure frequently covers just a fragment of the protein. You may be asked to log onto ModBase the first time you click on the pictures. It is simplest after logging in to just click on the picture again to get to the specific info on that model.

-  Orthologous Genes in Other Species
  Orthologies between human, mouse, and rat are computed by taking the best BLASTP hit, and filtering out non-syntenic hits. For more distant species reciprocal-best BLASTP hits are used. Note that the absence of an ortholog in the table below may reflect incomplete annotations in the other species rather than a true absence of the orthologous gene.
MouseRatZebrafishD. melanogasterC. elegansS. cerevisiae
No orthologNo orthologNo orthologNo orthologNo orthologNo ortholog
Gene DetailsGene Details    
Gene SorterGene Sorter    
 RGDEnsembl   
      
      

-  Gene Ontology (GO) Annotations with Structured Vocabulary
  Molecular Function:
GO:0004970 ionotropic glutamate receptor activity
GO:0004972 NMDA glutamate receptor activity
GO:0005088 Ras guanyl-nucleotide exchange factor activity
GO:0005216 ion channel activity
GO:0005234 extracellular-glutamate-gated ion channel activity
GO:0005261 cation channel activity
GO:0005515 protein binding
GO:0022849 glutamate-gated calcium ion channel activity
GO:0038023 signaling receptor activity

Biological Process:
GO:0000165 MAPK cascade
GO:0006811 ion transport
GO:0007215 glutamate receptor signaling pathway
GO:0007420 brain development
GO:0009611 response to wounding
GO:0019722 calcium-mediated signaling
GO:0033058 directional locomotion
GO:0035235 ionotropic glutamate receptor signaling pathway
GO:0042177 negative regulation of protein catabolic process
GO:0042391 regulation of membrane potential
GO:0048167 regulation of synaptic plasticity
GO:0050885 neuromuscular process controlling balance
GO:0060079 excitatory postsynaptic potential
GO:0097553 calcium ion transmembrane import into cytosol
GO:0098976 excitatory chemical synaptic transmission
GO:1903539 protein localization to postsynaptic membrane

Cellular Component:
GO:0005622 intracellular
GO:0005886 plasma membrane
GO:0005887 integral component of plasma membrane
GO:0016020 membrane
GO:0016021 integral component of membrane
GO:0017146 NMDA selective glutamate receptor complex
GO:0030054 cell junction
GO:0045202 synapse
GO:0045211 postsynaptic membrane


-  Descriptions from all associated GenBank mRNAs
  U77782 - Human N-methyl-D-aspartate receptor 2C subunit precursor (NMDAR2C) mRNA, complete cds.
JD501249 - Sequence 482273 from Patent EP1572962.
L76224 - Homo sapiens NMDA receptor mRNA, complete cds.
JD485772 - Sequence 466796 from Patent EP1572962.
JD427545 - Sequence 408569 from Patent EP1572962.
JD223722 - Sequence 204746 from Patent EP1572962.
BC140801 - Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C, mRNA (cDNA clone MGC:176478 IMAGE:9021669), complete cds.
BC144586 - Homo sapiens cDNA clone IMAGE:9053116, containing frame-shift errors.
JD546174 - Sequence 527198 from Patent EP1572962.
JD452971 - Sequence 433995 from Patent EP1572962.
JD475061 - Sequence 456085 from Patent EP1572962.
JD237128 - Sequence 218152 from Patent EP1572962.
DQ576832 - Homo sapiens piRNA piR-44944, complete sequence.
AB208799 - Homo sapiens mRNA for N-methyl-D-aspartate receptor subunit 2C precursor variant protein.
BC041128 - Homo sapiens, Similar to glutamate receptor, ionotropic, N-methyl D-aspartate 2C, clone IMAGE:5732599, mRNA, partial cds.
BC031077 - Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C, mRNA (cDNA clone IMAGE:5287877), complete cds.
BC059384 - Homo sapiens glutamate receptor, ionotropic, N-methyl D-aspartate 2C, mRNA (cDNA clone IMAGE:5302958), complete cds.
KJ901470 - Synthetic construct Homo sapiens clone ccsbBroadEn_10864 GRIN2C gene, encodes complete protein.
CU691360 - Synthetic construct Homo sapiens gateway clone IMAGE:100021012 5' read GRIN2C mRNA.

-  Biochemical and Signaling Pathways
  BioCarta from NCI Cancer Genome Anatomy Project
h_nos1Pathway - Nitric Oxide Signaling Pathway

Reactome (by CSHL, EBI, and GO)

Protein Q14957 (Reactome details) participates in the following event(s):

R-HSA-432172 Activation of NMDA receptor
R-HSA-432162 Unblocking of NMDA receptor
R-HSA-6794336 NMDAR binds PSD-95 subfamily members
R-HSA-442760 Activation of RasGRF
R-HSA-6794349 NMDA receptor complex:DLG2,DLG3,DLG4 binds SPAR
R-HSA-6794356 BEGAIN binds DLG2,DLG3,DLG4
R-HSA-8849878 PSD-95 binds NMDA receptor
R-HSA-432164 Ca2+ influx into the post-synaptic cell
R-HSA-445367 CaMKII enters cytoplasm
R-HSA-6794354 NMDA receptor complex:DLG2,DLG3,DLG4:SPAR binds PDLIM5
R-HSA-8849906 SALM1 binds NMDA receptor
R-HSA-8849881 SALM2 associate with AMPA and NMDA receptors
R-HSA-442732 Ras activation
R-HSA-5672965 RAS GEFs promote RAS nucleotide exchange
R-HSA-438066 Unblocking of NMDA receptor, glutamate binding and activation
R-HSA-6794361 Neurexins and neuroligins
R-HSA-442982 Ras activation upon Ca2+ influx through NMDA receptor
R-HSA-442755 Activation of NMDA receptor and postsynaptic events
R-HSA-6794362 Protein-protein interactions at synapses
R-HSA-8849932 Synaptic adhesion-like molecules
R-HSA-442742 CREB phosphorylation through the activation of Ras
R-HSA-442729 CREB phosphorylation through the activation of CaMKII
R-HSA-112314 Neurotransmitter receptors and postsynaptic signal transmission
R-HSA-112316 Neuronal System
R-HSA-438064 Post NMDA receptor activation events
R-HSA-112315 Transmission across Chemical Synapses
R-HSA-5673001 RAF/MAP kinase cascade
R-HSA-5684996 MAPK1/MAPK3 signaling
R-HSA-5683057 MAPK family signaling cascades
R-HSA-162582 Signal Transduction

-  Other Names for This Gene
  Alternate Gene Symbols: B2RTT1, ENST00000293190.1, ENST00000293190.2, ENST00000293190.3, ENST00000293190.4, ENST00000293190.5, ENST00000293190.6, ENST00000293190.7, ENST00000293190.8, ENST00000293190.9, NMDAR2C, NMDE3_HUMAN, NR_103735, Q14957, uc317lcx.1, uc317lcx.2
UCSC ID: ENST00000293190.10_7
RefSeq Accession: NM_000835.6
Protein: Q14957 (aka NMDE3_HUMAN)

-  Gene Model Information
  Click here for a detailed description of the fields of the table above.

-  Methods, Credits, and Use Restrictions
  Click here for details on how this gene model was made and data restrictions if any.